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Article

The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Genetics research - 1 Jan 2021

Zanetti Drumond Victor, Sousa Salgado Lucas, Sousa Salgado Camila, Oliveira Vitor Augusto de Lima, de Assis Eliene Magda, Campos Ribeiro Michel, Furtado Valadão Analina, Orrico Alfredo

Abstract excerpt

Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract...

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Identifiers

PMID: 33762894
DOI: 10.1155/2021/6652957
PMCID: PMC7953535

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